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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


The information on this page was automatically extracted from online scientific databases.

What is the official name of the CXCR4 gene?

The official name of this gene is “chemokine (C-X-C motif) receptor 4.”

CXCR4 is the gene's official symbol. The CXCR4 gene is also known by other names, listed below.

What is the normal function of the CXCR4 gene?

From NCBI Gene (

This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

From UniProt (

Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation. Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels. Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus. Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes.

NOTE: UniProt ( suggests using caution when interpreting this information.

How are changes in the CXCR4 gene related to health conditions?

UniProt ( provides the following information about the CXCR4 gene's known or predicted involvement in human disease.

WHIM syndrome (WHIM): Immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis.[1] The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene ( lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CXCR4 gene.
  • Warts, hypogammaglobulinemia, infections, and myelokathexis[1]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
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Where is the CXCR4 gene located?

Cytogenetic Location: 2q21

Molecular Location on chromosome 2: base pairs 136,114,348 to 136,118,154

The CXCR4 gene is located on the long (q) arm of chromosome 2 at position 21.

The CXCR4 gene is located on the long (q) arm of chromosome 2 at position 21.

More precisely, the CXCR4 gene is located from base pair 136,114,348 to base pair 136,118,154 on chromosome 2.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about CXCR4?

You and your healthcare professional may find the following resources about CXCR4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CXCR4 gene or gene products?

  • CD184
  • D2S201E
  • FB22
  • HM89
  • HSY3RR
  • LAP3
  • LAP-3
  • LCR1
  • NPY3R
  • NPYR
  • NPYY3R
  • WHIM

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding CXCR4?

bone marrow ; calcium ; cancer ; cardiac ; cell ; CNS ; endothelial cells ; expressed ; extracellular ; gastrointestinal ; gene ; HIV ; immunodeficiency ; infection ; intracellular ; ions ; isoforms ; LPS ; mediate ; mutation ; myeloid ; neuron ; neutropenia ; peripheral ; protein ; receptor ; secretion ; septum ; syndrome ; transmembrane ; ubiquitin ; vascular ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Published: July 21, 2014